{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:47:20Z","timestamp":1791290840973,"version":"4.3.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,9,27]],"date-time":"2004-09-27T00:00:00Z","timestamp":1096243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2004,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1\u20134 (WS1\u2013WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky\u2013Pudlak syndrome 1\u20137 (HPS1\u20137); Chediak\u2013Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1\u20134 (OCA1\u20134). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1\u20133 (GS1\u20133). These disorders are presented and their gene mutations and pathogenesis are discussed. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30036","type":"journal-article","created":{"date-parts":[[2004,9,27]],"date-time":"2004-09-27T16:01:28Z","timestamp":1096300888000},"page":"75-81","source":"Crossref","is-referenced-by-count":139,"title":["Genetics of pigmentary disorders"],"prefix":"10.1002","volume":"131C","author":[{"given":"Yasushi","family":"Tomita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1182\/blood.V78.1.51.51","article-title":"Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: A single\u2010center study of 22 cases","volume":"78","author":"Blanche S","year":"1991","journal-title":"Blood"},{"key":"e_1_2_7_5_1","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase\u2010related protein\u20101 (TRP\u20101) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as \u2018OCA3\u2019","volume":"58","author":"Boissy RE","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni1000"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10885"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.19.8696"},{"key":"e_1_2_7_10_1","first-page":"1159","article-title":"Tyrosinase gene mutations associated with type IB (\u201cyellow\u201d) oculocutaneous albinism","volume":"48","author":"Giebel LB","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115075"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2002.02074.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115064"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2003.00034.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80220-G"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/301603"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000018218"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2001.140305.x"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/378209"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/76024"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200318264"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-307"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-300"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-289"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90016-7"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/361072a0"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng835"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jidsp.5640195"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.4.553"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/355635a0"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)91767-1"},{"key":"e_1_2_7_36_1","article-title":"AIM\u20101 gene, OCA4, is one of major loci for Japanese oculocutaneous albinisms","volume":"121","author":"Tomita Y","year":"2003","journal-title":"J Invest Dermatol"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2001.140503.x"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.30036","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.30036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T10:19:44Z","timestamp":1694600384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.30036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,27]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,11,15]]}},"alternative-id":["10.1002\/ajmg.c.30036"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.30036","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,27]]}}}